This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.Arg418Ser
CA404085624
ENST00000560467.2:c.1254A>C
CA404085625
ENST00000560467.2:c.1254A>T